NEUID
MCID: NTR006
MIFTS: 35

Neutrophil Immunodeficiency Syndrome (NEUID) malady

Categories: Genetic diseases, Blood diseases, Rare diseases, Immune diseases

Aliases & Classifications for Neutrophil Immunodeficiency Syndrome

Aliases & Descriptions for Neutrophil Immunodeficiency Syndrome:

Name: Neutrophil Immunodeficiency Syndrome 54 24 56 66 29 13 69
Neuid 66

Characteristics:

Orphanet epidemiological data:

56
neutrophil immunodeficiency syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

Classifications:

Orphanet: 56  
Rare immunological diseases


External Ids:

OMIM 54 608203
Orphanet 56 ORPHA183707
ICD10 via Orphanet 34 D71
MedGen 40 C1842398
MeSH 42 D007153

Summaries for Neutrophil Immunodeficiency Syndrome

UniProtKB/Swiss-Prot : 66 Neutrophil immunodeficiency syndrome: An immunodeficiency syndrome due to defective neutrophils. Affected individuals present with leukocytosis, neutrophilia, severe recurrent bacterial infections and poor wound healing.

MalaCards based summary : Neutrophil Immunodeficiency Syndrome, also known as neuid, is related to chronic granulomatous disease, x-linked and muscular dystrophy, congenital, megaconial type, and has symptoms including immunodeficiency, leukocytosis and poor wound healing. An important gene associated with Neutrophil Immunodeficiency Syndrome is RAC2 (Ras-Related C3 Botulinum Toxin Substrate 2 (Rho Family, Small GTP Binding Protein Rac2)), and among its related pathways/superpathways are Phospholipase-C Pathway and p70S6K Signaling. The drugs Lamivudine and Sorbitol have been mentioned in the context of this disorder. Affiliated tissues include neutrophil.

Wikipedia : 71 Neutrophil immunodeficiency syndrome is a condition caused by mutations in the Rac2... more...

Description from OMIM: 608203

Related Diseases for Neutrophil Immunodeficiency Syndrome

Diseases related to Neutrophil Immunodeficiency Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 chronic granulomatous disease, x-linked 10.9
2 muscular dystrophy, congenital, megaconial type 9.8 RAC2 RHOD

Symptoms & Phenotypes for Neutrophil Immunodeficiency Syndrome

Clinical features from OMIM:

608203

Human phenotypes related to Neutrophil Immunodeficiency Syndrome:

56 32
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 immunodeficiency 56 32 Very frequent (99-80%) HP:0002721
2 leukocytosis 56 32 Very frequent (99-80%) HP:0001974
3 poor wound healing 56 32 Very frequent (99-80%) HP:0001058
4 abnormality of neutrophil physiology 56 32 Very frequent (99-80%) HP:0011990

Drugs & Therapeutics for Neutrophil Immunodeficiency Syndrome

Drugs for Neutrophil Immunodeficiency Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 141)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
2
Sorbitol Approved Phase 4 50-70-4 5780
3
Peginterferon alfa-2a Approved, Investigational Phase 4,Phase 3 198153-51-4 5360545
4
Ribavirin Approved Phase 4,Phase 3 36791-04-5 37542
5 Anti-HIV Agents Phase 4,Phase 3,Phase 2,Phase 1
6 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
7 Anti-Retroviral Agents Phase 4,Phase 3,Phase 2,Phase 1
8 Antiviral Agents Phase 4,Phase 3,Phase 2,Phase 1
9 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
10 Reverse Transcriptase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
11 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1
12 Cathartics Phase 4
13 Gastrointestinal Agents Phase 4,Phase 1,Phase 2
14 Laxatives Phase 4
15 Pharmaceutical Solutions Phase 4,Phase 1,Phase 2
16 Epoetin alfa Phase 4,Phase 1 113427-24-0
17 Hematinics Phase 4,Phase 1
18 Interferon-alpha Phase 4,Phase 1
19 interferons Phase 4,Phase 3,Phase 2,Phase 1
20
Emtricitabine Approved, Investigational Phase 3 143491-57-0 60877
21
Lopinavir Approved Phase 3 192725-17-0 92727
22
Ritonavir Approved, Investigational Phase 3,Phase 2 155213-67-5 392622
23
Tenofovir Approved, Investigational Phase 3 147127-20-6 464205
24
Ganciclovir Approved, Investigational Phase 3,Phase 1 82410-32-0 3454
25
alemtuzumab Approved, Investigational Phase 3,Phase 2,Phase 1,Early Phase 1 216503-57-0
26
Benzocaine Approved Phase 3 1994-09-7, 94-09-7 2337
27
Peginterferon alfa-2b Approved Phase 3 99210-65-8, 215647-85-1
28 tannic acid Approved, Nutraceutical Phase 3
29 Cytochrome P-450 Enzyme Inhibitors Phase 3,Phase 2
30 HIV Protease Inhibitors Phase 3,Phase 2
31
protease inhibitors Phase 3,Phase 2
32 Cytochrome P-450 CYP3A Inhibitors Phase 3,Phase 2
33 Emtricitabine, Tenofovir Disoproxil Fumarate Drug Combination Phase 3
34 HIV Integrase Inhibitors Phase 3
35 Integrase Inhibitors Phase 3
36 Raltegravir Potassium Phase 3
37 Ganciclovir triphosphate Phase 3,Phase 1
38 Atazanavir Sulfate Phase 3
39 Liver Extracts Phase 3,Phase 1,Phase 2
40
Didanosine Approved Phase 2,Phase 1 69655-05-6 50599
41
Lenograstim Approved Phase 2,Phase 1 135968-09-1
42
Cyclophosphamide Approved, Investigational Phase 2,Phase 1,Early Phase 1 50-18-0, 6055-19-2 2907
43
Fludarabine Approved Phase 2,Phase 1,Early Phase 1 21679-14-1, 75607-67-9 30751
44
Saquinavir Approved, Investigational Phase 2 127779-20-8 60787
45
Melphalan Approved Phase 1, Phase 2 148-82-3 4053 460612
46
Hydroxyurea Approved Phase 2,Phase 1 127-07-1 3657
47
Thiotepa Approved Phase 2,Phase 1 52-24-4 5453
48
Busulfan Approved, Investigational Phase 1, Phase 2, Early Phase 1 55-98-1 2478
49
Carmustine Approved Phase 1, Phase 2 154-93-8 2578
50
Cytarabine Approved, Investigational Phase 1, Phase 2 147-94-4 6253

Interventional clinical trials:

(show top 50) (show all 73)
id Name Status NCT ID Phase
1 A Phase IV, Open Label, 4-period Cross-over Study to Investigate a Drug Interaction Between Lamivudine and Sorbitol Oral Solutions in Healthy Volunteers Completed NCT02634073 Phase 4
2 Viral Kinetics of Treatment With Peginterferon Alpha-2a, Ribavirin and Epoetin β in Patients Coinfected HCV/HIV Completed NCT00356486 Phase 4
3 Treatment of Anemia and Neutropenia in HIV/HCV Coinfected Patients Treated With Pegylated Interferon and Ribavirin Terminated NCT00194857 Phase 4
4 Study Comparing Lopinavir/Ritonavir (LPV/r) + Emtricitabine/Tenofovir Disoproxil Fumarate (FTC/TDF) With a Nucleoside Sparing Regimen Consisting of Lopinavir/Ritonavir + Raltegravir (RAL) Completed NCT00711009 Phase 3
5 Phase III Ganciclovir +/- rGM-CSF for AIDS-Related CMV Retinitis Completed NCT00002070 Phase 3
6 BMS-Reyataz Study in Treatment in Naive Subjects to Compare the Efficacy and Safety Between Boosted Reyataz and Kaletra When in Combination With Fixed Dose Truvada Completed NCT00272779 Phase 3
7 Treatment of Chronic Granulomatous Disease With Allogeneic Stem Cell Transplantation Versus Standard of Care Completed NCT00023192 Phase 3
8 Eltrombopag To Initiate And Maintain Interferon Antiviral Treatment To Benefit Subjects With Hepatitis C Liver Disease Completed NCT00529568 Phase 3
9 Eltrombopag To Initiate And Maintain Interferon Antiviral Treatment To Subjects With Hepatitis C Related Liver Disease Completed NCT00516321 Phase 3
10 Phase II/III Study of the Tolerance and Efficacy of Combined Use of Didanosine (2',3'-Dideoxyinosine; ddI) and Lentinan in HIV-Positive Patients Unknown status NCT00002099 Phase 2
11 A Randomized, Controlled, Multicenter Trial of Filgrastim (Recombinant-Methionyl Human Granulocyte Colony Stimulating Factor; G-CSF) for the Prevention of Grade 4 Neutropenia in Patients With HIV Infection. Completed NCT00002126 Phase 2
12 Modified Stem Cell Transplantation Procedure for Treating Chronic Granulomatous Disease Completed NCT00006417 Phase 2
13 Interferon Gamma to Treat Leukocyte Adhesion Deficiency Type I Completed NCT00001905 Phase 2
14 A Study of Invirase (Saquinavir)/Ritonavir in HIV-Infected Infants and Children. Completed NCT00623597 Phase 2
15 Safety of and Immune Response to a Prime-Boost Vaccine Regimen in HIV-Uninfected Vaccine-Naive Adults Completed NCT00820846 Phase 2
16 A Pilot Study of LTB4 in HIV-1 Infected Adults Completed NCT00251537 Phase 2
17 Safety and Effectiveness of an Adjuvant in Improving Immune Response to Hepatitis B Virus Vaccine in HIV Infected Individuals Completed NCT00272493 Phase 2
18 Gene Transfer for X-Linked Severe Combined Immunodeficiency in Newly Diagnosed Infants Recruiting NCT01512888 Phase 1, Phase 2
19 Gene Therapy in Treating Patients With Human Immunodeficiency Virus-Related Lymphoma Receiving Stem Cell Transplant Recruiting NCT02797470 Phase 1, Phase 2
20 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2
21 CD34+ (Malignant) Stem Cell Selection for Patients Receiving Allogenic Stem Cell Transplant Recruiting NCT02061800 Phase 1, Phase 2
22 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2
23 Matched Unrelated or Non-Genotype Identical Related Donor Transplantation For Chronic Granulomatous Disease Recruiting NCT00578643 Phase 2
24 Evaluating the Safety and Immunogenicity of HIV Clade C DNA Vaccine and MF59- or AS01B-Adjuvanted Clade C Env Protein Vaccines in Various Combinations in Healthy, HIV-Uninfected Adults Recruiting NCT02915016 Phase 1, Phase 2
25 Reduced Intensity Conditioning for Hemophagocytic Syndromes or Selected Primary Immune Deficiencies (BMT CTN 1204) Active, not recruiting NCT01998633 Phase 2
26 Evaluating the Safety and Immunogenicity of ALVAC-HIV and MF59®-or AS01B-adjuvanted Bivalent Subtype C gp120 in Healthy, HIV-uninfected Adult Participants Not yet recruiting NCT03122223 Phase 1, Phase 2
27 Related Hematopoietic Stem Cell Transplantation (HSCT) for Genetic Diseases of Blood Cells Terminated NCT02512679 Phase 2
28 Infliximab to Treat Crohn'S-like Inflammatory Bowel Disease in Chronic Granulomatous Disease Terminated NCT00325078 Phase 1, Phase 2
29 Foscarnet Treatment of Serious CMV Retinitis Infection in Patients With Acquired Immunodeficiency Syndrome Completed NCT00000726 Phase 1
30 An Open-Label Phase I/II Study of Recombinant Granulocyte Colony Stimulating Factor (r-metHuG-CSF) and Recombinant Erythropoietin (rHuEPO) Given Subcutaneously Along With Zidovudine (AZT) to Patients With the Acquired Immune Deficiency Syndrome (AIDS) or Completed NCT00002255 Phase 1
31 AMD 3100 for Treatment of Myelokathexis Completed NCT01058993 Phase 1
32 Phase I/II Study of Recombinant Human Interferon-gamma (rIFN-gamma) in HIV-Infected Children Completed NCT00000761 Phase 1
33 A Phase I/II Pilot Study of Simultaneously Administered Rhu GM-CSF ( CHO Cell ) and Azidothymidine ( AZT ) in Patients With Severe HIV Infection and Leukopenia: Pharmacokinetics and Feasibility Completed NCT00002006 Phase 1
34 Unrelated Umbilical Cord Blood Transplantation Augmented With ALDHbr Umbilical Cord Blood Cells Completed NCT00692926 Phase 1
35 A Phase I/II Open Label Study To Evaluate the Antiviral Potential of Combination Low-Dose Therapy With Zidovudine and Interferon-Alpha 2A in Patients With Symptomatic HIV Disease Completed NCT00000696 Phase 1
36 Phase I/II Study of the Tolerance and Efficacy of Combined Use of Didanosine (2',3'-Dideoxyinosine; ddI) and Lentinan in HIV-Positive Patients Completed NCT00002098 Phase 1
37 A Phase I/II Open-Labelled Trial of Intravitreal Ganciclovir Salvage Therapy for AIDS Patients With Active CMV Retinitis Who Are Intolerant of Systemic Therapy Completed NCT00000673 Phase 1
38 A Phase I Trial of Recombinant Human Granulocyte-Macrophage Colony Stimulating Factor (rHuGM-CSF), Recombinant Alpha Interferon and Azidothymidine (AZT) in AIDS-Associated Kaposi's Sarcoma Completed NCT00000694 Phase 1
39 Reduced Intensity Conditioning for Umbilical Cord Blood Transplant in Pediatric Patients With Non-Malignant Disorders Completed NCT00744692 Phase 1
40 Stem Cell Transplant Following Low-Intensity Chemotherapy to Treat Chronic Granulomatous Disease Completed NCT00001765 Phase 1
41 Safety of and Immune Response to the PENNVAX-B DNA Vaccine With and Without IL-12 in HIV-uninfected Adults Completed NCT00991354 Phase 1
42 Evaluating the Safety and Immune Response to an HIV Vaccine in Healthy, HIV-Uninfected Adults Who Have Participated in Previous HIV Vaccine Clinical Trials and in Adults Who Have Not Participated in Previous HIV Vaccine Clinical Trials Completed NCT01376726 Phase 1
43 Evaluating Heterologous-Insert Prime-Boost HIV Vaccine Regimens in HIV-Uninfected Adults Completed NCT01095224 Phase 1
44 Examining the Role of Genetics in Determining the Immune Response to an HIV Vaccine in HIV-Uninfected Adult Twins Completed NCT01054872 Phase 1
45 Diagnostic Effectiveness of Virtual Bronchoscopy Completed NCT00001515 Phase 1
46 A Phase I Study of Mozobil in the Treatment of Patients With WHIMS Recruiting NCT00967785 Phase 1
47 URMC Related Haplo-identical Donor BMT Recruiting NCT02660281 Phase 1
48 Effect of IFN-γ on Innate Immune Cells Recruiting NCT02609932 Phase 1
49 Evaluating the Immunogenicity of the AIDSVAX B/E Vaccine and the MVA/HIV62B Vaccine in Healthy, HIV-1-Uninfected Adults Who Previously Received MVA/HIV62B in DNA/MVA or MVA/MVA Regimens in HVTN 205 Recruiting NCT02852005 Phase 1
50 Safety and Immune Response to a Clade C DNA HIV Vaccine Recruiting NCT02997969 Phase 1

Search NIH Clinical Center for Neutrophil Immunodeficiency Syndrome

Genetic Tests for Neutrophil Immunodeficiency Syndrome

Genetic tests related to Neutrophil Immunodeficiency Syndrome:

id Genetic test Affiliating Genes
1 Neutrophil Immunodeficiency Syndrome 29 24 RAC2

Anatomical Context for Neutrophil Immunodeficiency Syndrome

MalaCards organs/tissues related to Neutrophil Immunodeficiency Syndrome:

39
Neutrophil

Publications for Neutrophil Immunodeficiency Syndrome

Articles related to Neutrophil Immunodeficiency Syndrome:

id Title Authors Year
1
Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation. ( 10758162 )
2000

Variations for Neutrophil Immunodeficiency Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Neutrophil Immunodeficiency Syndrome:

66
id Symbol AA change Variation ID SNP ID
1 RAC2 p.Asp57Asn VAR_017452 rs74315507

ClinVar genetic disease variations for Neutrophil Immunodeficiency Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 RAC2 NM_002872.4(RAC2): c.169G> A (p.Asp57Asn) single nucleotide variant Pathogenic rs74315507 GRCh37 Chromosome 22, 37628897: 37628897

Expression for Neutrophil Immunodeficiency Syndrome

Search GEO for disease gene expression data for Neutrophil Immunodeficiency Syndrome.

Pathways for Neutrophil Immunodeficiency Syndrome

Pathways related to Neutrophil Immunodeficiency Syndrome according to GeneCards Suite gene sharing:

(show all 15)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.44 RAC2 RHOD
2
Show member pathways
12.42 RAC2 RHOD
3
Show member pathways
12.38 RAC2 RHOD
4
Show member pathways
12.34 RAC2 RHOD
5
Show member pathways
12.28 RAC2 RHOD
6
Show member pathways
12.24 RAC2 RHOD
7
Show member pathways
12.2 RAC2 RHOD
8
Show member pathways
12.18 RAC2 RHOD
9
Show member pathways
11.78 RAC2 RHOD
10 11.56 RAC2 RHOD
11
Show member pathways
11.37 RAC2 RHOD
12
Show member pathways
11.33 RAC2 RHOD
13 11.22 RAC2 RHOD
14
Show member pathways
10.69 RAC2 RHOD
15 10.55 RAC2 RHOD

GO Terms for Neutrophil Immunodeficiency Syndrome

Biological processes related to Neutrophil Immunodeficiency Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 small GTPase mediated signal transduction GO:0007264 8.96 RAC2 RHOD
2 regulation of small GTPase mediated signal transduction GO:0051056 8.62 RAC2 RHOD

Molecular functions related to Neutrophil Immunodeficiency Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 GTP binding GO:0005525 8.96 RAC2 RHOD
2 GTPase activity GO:0003924 8.62 RAC2 RHOD

Sources for Neutrophil Immunodeficiency Syndrome

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7 CNVD
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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